Case of Rare Pathogenic Variant Involving SGCE Gene (Myoclonic Dystonia 1 presenting as Huntington Disease (HD) Phenocopy Syndrome

被引:0
|
作者
Ahmed, Anwar [1 ]
Pagano, Jennifer [2 ]
Lotia, Mitesh [3 ]
机构
[1] Advent Hlth, Altamonte Springs, FL USA
[2] Advent Hlth Innovat, Orlando, FL USA
[3] Advent Hlth Neurosci Inst Innovat Tower, Movement Disorders, Orlando, FL USA
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
M2.158
引用
收藏
页码:S237 / S238
页数:2
相关论文
共 40 条
  • [1] A Case with Alstrom Syndrome with a Novel Pathogenic Variant In ALMS1 gene as a Rare Cause of Diabetes Mellitus
    Cakir, Aydilek Dagdeviren
    Ozyilmaz, Leyla Gizem Bolac
    Ucar, Ahmet
    HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 191 - 191
  • [2] Pheochromocytoma/Paraganglioma Syndrome Type 1 Presenting with Atypical Symptoms and a Novel Pathogenic Variant in the SDHD Gene: A Case Report
    Zohrehvand, Elham
    Injinari, Nastaran
    Feyzabadi, Maryam Kiani
    Aghili, Kazem
    Ghaemi, Farahnaz
    Azizi, Reyhaneh
    ARCHIVES OF IRANIAN MEDICINE, 2024, 27 (08) : 41 - 45
  • [3] A GNAI1 Pathogenic Variant in a Case with GNAO1-Isolated Dystonia: A Modifier of Disease Severity?
    Monje, Mariana H. G.
    Blackburn, Joanna Sarah
    Kinsley, Lisa
    Krainc, Dimitri
    Mencacci, Niccolo E.
    MOVEMENT DISORDERS, 2024, 39 (05) : 918 - 920
  • [4] Novel KCNA1 pathogenic variant associated syndrome of episodic dystonia and electrophysiologic myokymia - A case report
    Major, Lauren
    Lebel, Robert Roger
    Rothman, Steven
    Sakonju, Ai
    GENETICS IN MEDICINE, 2022, 24 (03) : S114 - S114
  • [5] Pathogenic DNM1 Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case Report
    Choi, Elaine
    Dale, Breanne
    RamachandranNair, Rajesh
    Ejaz, Resham
    NEUROLOGY-GENETICS, 2021, 7 (05)
  • [6] A rare case of intermediate phenotype Niemann-Pick disease with a rare pathogenic variant of 1624C>T in SMPD1 gene
    Krishna, Deepthi
    Gunasekaran, Pradeep Kumar
    Kumari, Janki
    Laxmi, Veena
    Saini, Lokesh
    Singh, Kuldeep
    JOURNAL OF NEUROSCIENCES IN RURAL PRACTICE, 2023, 14 (01) : 189 - 190
  • [7] A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report
    Suliman, Asem
    Yan, Weiang
    Yamashita, Michael H.
    Krentz, Anthony D.
    Mhanni, Aizeddin
    Garber, Philip J.
    EUROPEAN HEART JOURNAL-CASE REPORTS, 2022, 6 (03)
  • [8] Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature
    Ashari, Kosar Asna
    Azari-Yam, Aileen
    Shahrooei, Mohammad
    Ziaee, Vahid
    JOURNAL OF MEDICAL CASE REPORTS, 2023, 17 (01)
  • [9] Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature 
    Kosar Asna Ashari
    Aileen Azari-Yam
    Mohammad Shahrooei
    Vahid Ziaee
    Journal of Medical Case Reports, 17
  • [10] RARE VARIANT OF THE PKD1 GENE IN A PATIENT WITHPOLYCYSTICKIDNEY DISEASE (PKD) - CASE REPORT
    Milart, Joanna
    Placzynska, Malgorzata
    Jobs, Katarzyna
    PEDIATRIC NEPHROLOGY, 2022, 37 (11) : 2962 - 2962